Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

Null mutations in the progranulin gene (GRN, PGRN) were recently identified as the causal mechanism underlying frontotemporal dementia (FTD) with ubiquitin‐positive brain pathology linked to chromosome 17 (FTDU‐17). In a Belgian and French FTD series comprising 332 patients, we reported 13 PGRN null...

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Veröffentlicht in:Human mutation 2007-04, Vol.28 (4), p.416-416
Hauptverfasser: van der Zee, Julie, Le Ber, Isabelle, Maurer-Stroh, Sebastian, Engelborghs, Sebastiaan, Gijselinck, Ilse, Camuzat, Agnès, Brouwers, Nathalie, Vandenberghe, Rik, Sleegers, Kristel, Hannequin, Didier, Dermaut, Bart, Schymkowitz, Joost, Campion, Dominique, Santens, Patrick, Martin, Jean-Jacques, Lacomblez, Lucette, De Pooter, Tim, Peeters, Karin, Mattheijssens, Maria, Vercelletto, Martine, Van den Broeck, Marleen, Cruts, Marc, De Deyn, Peter P., Rousseau, Frederic, Brice, Alexis, Van Broeckhoven, Christine
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Sprache:eng
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